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Other genetic dermis disorder

MedGen UID:
1842542
•Concept ID:
C5681256
•
Disease or Syndrome
Orphanet: ORPHA477808

Professional guidelines

PubMed

Urticaria and Angioedema: Understanding Complex Pathomechanisms to Facilitate Patient Communication, Disease Management, and Future Treatment.
Konstantinou GN, Riedl MA, Valent P, Podder I, Maurer M
J Allergy Clin Immunol Pract 2023 Jan;11(1):94-106. doi: 10.1016/j.jaip.2022.11.006. PMID: 36610760
Clinical and Molecular Insights of Radiation-Induced Breast Sarcomas: Is There Hope on the Horizon for Effective Treatment of This Aggressive Disease?
Kokkali S, Moreno JD, Klijanienko J, Theocharis S
Int J Mol Sci 2022 Apr 8;23(8) doi: 10.3390/ijms23084125. PMID: 35456944Free PMC Article
Pathophysiology, etiologic factors, and clinical management of oral lichen planus, part I: facts and controversies.
Farhi D, Dupin N
Clin Dermatol 2010 Jan-Feb;28(1):100-8. doi: 10.1016/j.clindermatol.2009.03.004. PMID: 20082959

Recent clinical studies

Etiology

Wnt/β-Catenin-Activated Nonpilomatrical Carcinoma of the Skin: A Case Series.
Kervarrec T, Cheok Lei K, Sohier P, Macagno N, Jullie ML, Frouin E, Goto K, Taniguchi K, Hamard A, Taillandier A, Tallet A, Bonenfant C, Sahin Y, Barry F, Taibjee S, Cokelaere K, Houben R, Schrama D, Nardin C, Aubin F, Doucet L, Pissaloux D, Tirode F, Fouchardière A, Balme B, Laurent-Roussel S, Becker JC, von Deimling A, Samimi M, Cribier B, Battistella M, Calonje E, Guyétan S
Mod Pathol 2024 Nov;37(11):100586. Epub 2024 Jul 31 doi: 10.1016/j.modpat.2024.100586. PMID: 39094735
The effects of systemic diseases, genetic disorders and lifestyle on keloids.
Xia G, Dohi T, Abdelhakim M, Tosa M, Ogawa R
Int Wound J 2024 Apr;21(4):e14865. doi: 10.1111/iwj.14865. PMID: 38584345Free PMC Article
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A
Front Endocrinol (Lausanne) 2022;13:803226. Epub 2022 Feb 25 doi: 10.3389/fendo.2022.803226. PMID: 35282436Free PMC Article
Cutaneous sarcomas.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kutane Sarkome.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446

Diagnosis

Cutaneous sarcomas.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kutane Sarkome.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446
Psoriasis.
Greb JE, Goldminz AM, Elder JT, Lebwohl MG, Gladman DD, Wu JJ, Mehta NN, Finlay AY, Gottlieb AB
Nat Rev Dis Primers 2016 Nov 24;2:16082. doi: 10.1038/nrdp.2016.82. PMID: 27883001
Epidermolysis bullosa acquisita.
Gupta R, Woodley DT, Chen M
Clin Dermatol 2012 Jan-Feb;30(1):60-9. doi: 10.1016/j.clindermatol.2011.03.011. PMID: 22137228Free PMC Article
Dermatitis herpetiformis.
Fry L
Baillieres Clin Gastroenterol 1995 Jun;9(2):371-93. doi: 10.1016/0950-3528(95)90036-5. PMID: 7549032

Therapy

Prurigo nodularis: new insights into pathogenesis and novel therapeutics.
Liao V, Cornman HL, Ma E, Kwatra SG
Br J Dermatol 2024 May 17;190(6):798-810. doi: 10.1093/bjd/ljae052. PMID: 38345154Free PMC Article
Psoriasis.
Greb JE, Goldminz AM, Elder JT, Lebwohl MG, Gladman DD, Wu JJ, Mehta NN, Finlay AY, Gottlieb AB
Nat Rev Dis Primers 2016 Nov 24;2:16082. doi: 10.1038/nrdp.2016.82. PMID: 27883001
Epidermolysis bullosa acquisita.
Gupta R, Woodley DT, Chen M
Clin Dermatol 2012 Jan-Feb;30(1):60-9. doi: 10.1016/j.clindermatol.2011.03.011. PMID: 22137228Free PMC Article
Dermatitis herpetiformis.
Fry L
Baillieres Clin Gastroenterol 1995 Jun;9(2):371-93. doi: 10.1016/0950-3528(95)90036-5. PMID: 7549032
The immunobiology of leprosy.
Kaplan G, Cohn ZA
Int Rev Exp Pathol 1986;28:45-78. PMID: 3516911

Prognosis

Advanced Biomarkers: Therapeutic and Diagnostic Targets in Urticaria.
Zhang Y, Zhang H, Du S, Yan S, Zeng J
Int Arch Allergy Immunol 2021;182(10):917-931. Epub 2021 Apr 29 doi: 10.1159/000515753. PMID: 33915552
Cutaneous sarcomas.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-648. doi: 10.1111/ddg.13249. PMID: 28591457
Kutane Sarkome.
Kohlmeyer J, Steimle-Grauer SA, Hein R
J Dtsch Dermatol Ges 2017 Jun;15(6):630-649. doi: 10.1111/ddg.13249_g. PMID: 28591446
Neutrophilic Figurate Erythema.
Wu YH, Hsiao PF
Am J Dermatopathol 2017 May;39(5):344-350. doi: 10.1097/DAD.0000000000000723. PMID: 28426486
Inherited epidermolysis bullosa.
Fine JD
Orphanet J Rare Dis 2010 May 28;5:12. doi: 10.1186/1750-1172-5-12. PMID: 20507631Free PMC Article

Clinical prediction guides

Wnt/β-Catenin-Activated Nonpilomatrical Carcinoma of the Skin: A Case Series.
Kervarrec T, Cheok Lei K, Sohier P, Macagno N, Jullie ML, Frouin E, Goto K, Taniguchi K, Hamard A, Taillandier A, Tallet A, Bonenfant C, Sahin Y, Barry F, Taibjee S, Cokelaere K, Houben R, Schrama D, Nardin C, Aubin F, Doucet L, Pissaloux D, Tirode F, Fouchardière A, Balme B, Laurent-Roussel S, Becker JC, von Deimling A, Samimi M, Cribier B, Battistella M, Calonje E, Guyétan S
Mod Pathol 2024 Nov;37(11):100586. Epub 2024 Jul 31 doi: 10.1016/j.modpat.2024.100586. PMID: 39094735
Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin.
Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK
Br J Dermatol 2024 Jul 16;191(2):252-260. doi: 10.1093/bjd/ljae110. PMID: 38477474
Neutrophilic Figurate Erythema.
Wu YH, Hsiao PF
Am J Dermatopathol 2017 May;39(5):344-350. doi: 10.1097/DAD.0000000000000723. PMID: 28426486
Risk stratification in extramammary Paget disease.
Cohen JM, Granter SR, Werchniak AE
Clin Exp Dermatol 2015 Jul;40(5):473-8. Epub 2015 May 26 doi: 10.1111/ced.12690. PMID: 26011765
The immunobiology of leprosy.
Kaplan G, Cohn ZA
Int Rev Exp Pathol 1986;28:45-78. PMID: 3516911

Recent systematic reviews

Protein biomarker for psoriasis: A systematic review on their role in the pathomechanism, diagnosis, potential targets and treatment of psoriasis.
Yadav K, Singh D, Singh MR
Int J Biol Macromol 2018 Oct 15;118(Pt B):1796-1810. Epub 2018 Jul 11 doi: 10.1016/j.ijbiomac.2018.07.021. PMID: 30017989

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